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Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach

Congenital erythropoietic porphyria (CEP) is a rare hereditary autosomal recessive disease which has never been reported in Zebu cattle. A 3-day-old Gir calf showed teeth discoloration, fever, dehydration, and dyspnea. The main gross findings were pink-colored teeth, red-brown periosteum and bone ma...

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Autores principales: Queiroz, Cintia Regina Rêgo, Machado, Mizael, Bromberger, Cristiana Raach, Oliveira-Filho, Jose Paes, Borges, Alexandre Secorun, Soto-Blanco, Benito, Borges, José Renato Junqueira, Câmara, Antônio Carlos Lopes, de Castro, Márcio Botelho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7994774/
https://www.ncbi.nlm.nih.gov/pubmed/33778038
http://dx.doi.org/10.3389/fvets.2021.632762
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author Queiroz, Cintia Regina Rêgo
Machado, Mizael
Bromberger, Cristiana Raach
Oliveira-Filho, Jose Paes
Borges, Alexandre Secorun
Soto-Blanco, Benito
Borges, José Renato Junqueira
Câmara, Antônio Carlos Lopes
de Castro, Márcio Botelho
author_facet Queiroz, Cintia Regina Rêgo
Machado, Mizael
Bromberger, Cristiana Raach
Oliveira-Filho, Jose Paes
Borges, Alexandre Secorun
Soto-Blanco, Benito
Borges, José Renato Junqueira
Câmara, Antônio Carlos Lopes
de Castro, Márcio Botelho
author_sort Queiroz, Cintia Regina Rêgo
collection PubMed
description Congenital erythropoietic porphyria (CEP) is a rare hereditary autosomal recessive disease which has never been reported in Zebu cattle. A 3-day-old Gir calf showed teeth discoloration, fever, dehydration, and dyspnea. The main gross findings were pink-colored teeth, red-brown periosteum and bone marrow, and a fluorescent bright pink coloration of the bone marrow and articular surfaces under ultraviolet light. Aggregates of periodic acid-Schiff (PAS)-stained porphyrin pigments were evident in the lungs, kidneys, and the liver. An intron 8 single-nucleotide polymorphism (SNP) in both the Gir calf and control animals, along with the absence of the uroporphyrin III synthetase (UROS) gene mutation, was observed. Most SNPs were located in the intron regions of the UROS gene without relevance for CEP. A continuous loss of genetic variability and an increase in inbreeding in some herds may be related to CEP in Gir cattle, one of the most prominent Zebu breeds worldwide. In summary, this study describes a presumptive case of CEP in a Gir calf based on clinical and pathological findings. A definitive diagnosis would require the measurement of porphyrin levels in blood, urine, or tissues or the identification of UROS gene defects.
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spelling pubmed-79947742021-03-27 Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach Queiroz, Cintia Regina Rêgo Machado, Mizael Bromberger, Cristiana Raach Oliveira-Filho, Jose Paes Borges, Alexandre Secorun Soto-Blanco, Benito Borges, José Renato Junqueira Câmara, Antônio Carlos Lopes de Castro, Márcio Botelho Front Vet Sci Veterinary Science Congenital erythropoietic porphyria (CEP) is a rare hereditary autosomal recessive disease which has never been reported in Zebu cattle. A 3-day-old Gir calf showed teeth discoloration, fever, dehydration, and dyspnea. The main gross findings were pink-colored teeth, red-brown periosteum and bone marrow, and a fluorescent bright pink coloration of the bone marrow and articular surfaces under ultraviolet light. Aggregates of periodic acid-Schiff (PAS)-stained porphyrin pigments were evident in the lungs, kidneys, and the liver. An intron 8 single-nucleotide polymorphism (SNP) in both the Gir calf and control animals, along with the absence of the uroporphyrin III synthetase (UROS) gene mutation, was observed. Most SNPs were located in the intron regions of the UROS gene without relevance for CEP. A continuous loss of genetic variability and an increase in inbreeding in some herds may be related to CEP in Gir cattle, one of the most prominent Zebu breeds worldwide. In summary, this study describes a presumptive case of CEP in a Gir calf based on clinical and pathological findings. A definitive diagnosis would require the measurement of porphyrin levels in blood, urine, or tissues or the identification of UROS gene defects. Frontiers Media S.A. 2021-03-12 /pmc/articles/PMC7994774/ /pubmed/33778038 http://dx.doi.org/10.3389/fvets.2021.632762 Text en Copyright © 2021 Queiroz, Machado, Bromberger, Oliveira-Filho, Borges, Soto-Blanco, Borges, Câmara and Castro. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Veterinary Science
Queiroz, Cintia Regina Rêgo
Machado, Mizael
Bromberger, Cristiana Raach
Oliveira-Filho, Jose Paes
Borges, Alexandre Secorun
Soto-Blanco, Benito
Borges, José Renato Junqueira
Câmara, Antônio Carlos Lopes
de Castro, Márcio Botelho
Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach
title Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach
title_full Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach
title_fullStr Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach
title_full_unstemmed Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach
title_short Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach
title_sort case report: a possible case of congenital erythropoietic porphyria in a gir calf: a clinical, pathological, and molecular approach
topic Veterinary Science
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7994774/
https://www.ncbi.nlm.nih.gov/pubmed/33778038
http://dx.doi.org/10.3389/fvets.2021.632762
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